No abstract

We describe a patient with hereditary angioedema type I. The patient had experienced recurrent abdominal pain around the time of her menstrual period for 13 years. A laboratory examination showed reduced functional and antigenic levels of C4 and C1 inhibitor (C1-INH). To establish a diagnosis, we carried out a DNA analysis of the patient's C1-INH gene. We determined that the patient was heterozygous for a single base pair transposition of T to C at nucleotide 4429 in exon 4, which had not been reported in the literature. As the patient had no family history of hereditary diseases, it was considered to be a de novo mutation.

No abstract

Congenital atrioventricular block was diagnosed with B-mode and M-mode ultrasonography at the 30th week of gestation in a bradycardic fetus. Major anomalies were excluded and prenatal fetal well-being was monitored with daily B-mode and maternal perception of fetal movement to detect circulatory derangement at an early stage. Because of the sudden onset of circulatory failure, emergency Caesarean section was performed to save the otherwise normal fetus. Two days later, the infant developed ventricular fibrillation, for which surgical intervention was indicated. Pacemaking was effective in reestablishing the neonatal circulation.